Somatic mosaicism for copy number variation in differentiated human tissues

Arkadiusz Piotrowski; Carl E G Bruder; Robin Andersson; Teresita Diaz de Ståhl; Uwe Menzel; Johanna Sandgren; Andrzej Poplawski; Desiree von Tell; Chiquito Crasto; Adam Bogdan; Rafal Bartoszewski; Zsuzsa Bebok; Maciej Krzyzanowski; Zbigniew Jankowski; E Christopher Partridge; Jan Komorowski; Jan P Dumanski

doi:10.1002/humu.20815

Somatic mosaicism for copy number variation in differentiated human tissues

Arkadiusz Piotrowski, Carl E G Bruder, Robin Andersson, Teresita Diaz de Ståhl, Uwe Menzel, Johanna Sandgren, Andrzej Poplawski, Desiree von Tell, Chiquito Crasto, Adam Bogdan, Rafal Bartoszewski, Zsuzsa Bebok, Maciej Krzyzanowski, Zbigniew Jankowski, E Christopher Partridge, Jan Komorowski, Jan P Dumanski

160 Citationer (Scopus)

Abstract

Two major types of genetic variation are known: single nucleotide polymorphisms (SNPs), and a more recently discovered structural variation, involving changes in copy number (CNVs) of kilobase- to megabase-sized chromosomal segments. It is unknown whether CNVs arise in somatic cells, but it is, however, generally assumed that normal cells are genetically identical. We tested 34 tissue samples from three subjects and, having analyzed for each tissue

Originalsprog	Engelsk
Tidsskrift	Human Mutation
Vol/bind	29
Udgave nummer	9
Sider (fra-til)	1118-24
Antal sider	7
ISSN	1059-7794
DOI	https://doi.org/10.1002/humu.20815
Status	Udgivet - sep. 2008
Udgivet eksternt	Ja

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Piotrowski, A., Bruder, C. E. G., Andersson, R., Diaz de Ståhl, T., Menzel, U., Sandgren, J., Poplawski, A., von Tell, D., Crasto, C., Bogdan, A., Bartoszewski, R., Bebok, Z., Krzyzanowski, M., Jankowski, Z., Partridge, E. C., Komorowski, J., & Dumanski, J. P. (2008). Somatic mosaicism for copy number variation in differentiated human tissues. Human Mutation, 29(9), 1118-24. https://doi.org/10.1002/humu.20815

Piotrowski, A, Bruder, CEG, Andersson, R, Diaz de Ståhl, T, Menzel, U, Sandgren, J, Poplawski, A, von Tell, D, Crasto, C, Bogdan, A, Bartoszewski, R, Bebok, Z, Krzyzanowski, M, Jankowski, Z, Partridge, EC, Komorowski, J & Dumanski, JP 2008, 'Somatic mosaicism for copy number variation in differentiated human tissues', Human Mutation, bind 29, nr. 9, s. 1118-24. https://doi.org/10.1002/humu.20815

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abstract = "Two major types of genetic variation are known: single nucleotide polymorphisms (SNPs), and a more recently discovered structural variation, involving changes in copy number (CNVs) of kilobase- to megabase-sized chromosomal segments. It is unknown whether CNVs arise in somatic cells, but it is, however, generally assumed that normal cells are genetically identical. We tested 34 tissue samples from three subjects and, having analyzed for each tissue ",

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year = "2008",

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doi = "10.1002/humu.20815",

language = "English",

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AU - Piotrowski, Arkadiusz

AU - Bruder, Carl E G

AU - Andersson, Robin

AU - Diaz de Ståhl, Teresita

AU - Menzel, Uwe

AU - Sandgren, Johanna

AU - Poplawski, Andrzej

AU - von Tell, Desiree

AU - Crasto, Chiquito

AU - Bogdan, Adam

AU - Bartoszewski, Rafal

AU - Bebok, Zsuzsa

AU - Krzyzanowski, Maciej

AU - Jankowski, Zbigniew

AU - Partridge, E Christopher

AU - Komorowski, Jan

AU - Dumanski, Jan P

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N2 - Two major types of genetic variation are known: single nucleotide polymorphisms (SNPs), and a more recently discovered structural variation, involving changes in copy number (CNVs) of kilobase- to megabase-sized chromosomal segments. It is unknown whether CNVs arise in somatic cells, but it is, however, generally assumed that normal cells are genetically identical. We tested 34 tissue samples from three subjects and, having analyzed for each tissue

AB - Two major types of genetic variation are known: single nucleotide polymorphisms (SNPs), and a more recently discovered structural variation, involving changes in copy number (CNVs) of kilobase- to megabase-sized chromosomal segments. It is unknown whether CNVs arise in somatic cells, but it is, however, generally assumed that normal cells are genetically identical. We tested 34 tissue samples from three subjects and, having analyzed for each tissue

KW - Adult

KW - Chromosomes, Human

KW - Gene Dosage

KW - Genetic Predisposition to Disease

KW - Genomics

KW - Humans

KW - Mosaicism

KW - Oligonucleotide Array Sequence Analysis

KW - Organ Specificity

KW - Polymorphism, Genetic

KW - Tissue Distribution

U2 - 10.1002/humu.20815

DO - 10.1002/humu.20815

M3 - Journal article

C2 - 18570184

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VL - 29

SP - 1118

EP - 1124

JO - Human Mutation

JF - Human Mutation

IS - 9

ER -

Somatic mosaicism for copy number variation in differentiated human tissues

Abstract

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